choline O-acetyltransferase

Summary
Gene Symbol
  • CHAT
Organism
Homo sapiens (human)
External Links
NCBI Gene
1103
HGNC
1912
KEGG Gene ID
hsa:1103
PubChem
1103
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acyltransferase
  • Alternative splicing
  • Congenital myasthenic syndrome
  • Direct protein sequencing
  • Disease variant
  • Neurotransmitter biosynthesis
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying all 3 entries
UniProt Protein Name
Q6LEN5
Q6LEN6
P28329
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000070748

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K00623
Name
choline O-acetyltransferase [EC:2.3.1.6]
References
Disease
Disease Ontology
Displaying entries 131 - 140 of 186 in total
DO ID Disease Name Source
DOID:3683 lung benign neoplasm
DOID:3770 pulmonary fibrosis
DOID:381 arthropathy
DOID:3904 bronchus carcinoma
DOID:3905 lung carcinoma
DOID:4090 agnosia
DOID:4160 differentiating neuroblastoma
DOID:422 congenital structural myopathy
DOID:440 neuromuscular disease
DOID:4543 retrograde amnesia
The Human Phenotype Ontology
Displaying entries 21 - 30 of 75 in total
HPO ID HPO Term
HP:0001265 Hyporeflexia
HP:0001270 Motor delay
HP:0001283 Bulbar palsy
HP:0001284 Areflexia
HP:0001374 Congenital hip dislocation
HP:0001382 Joint hypermobility
HP:0001558 Decreased fetal movement
HP:0001561 Polyhydramnios
HP:0001611 Hypernasal speech
HP:0001612 Weak cry
Displaying all 2 entries
Disease ID Disease Name
OMIM:254210
  • congenital myasthenic syndrome 6
ORPHA:98914
  • obsolete presynaptic congenital myasthenic syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000060
Gene Name
choline O-acetyltransferase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024